Publikace
- Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy2013 | 1. lékařská fakulta
- Rapid Isolation of Lysosomal Membranes from Cultured Cells2013 | 1. lékařská fakulta
- Metody pro rychlou a spolehlivou laboratorní diagnostiku Pompeho nemoci: zpráva z mezinárodního setkání o metodickém konsenzu2008 | 1. lékařská fakulta
- Lactosylceramide in lysosomal storage disorders. A comparative immunohistochemical and biochemical study2005 | 1. lékařská fakulta
- A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation2001 | 1. lékařská fakulta
- Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease2022 | 1. lékařská fakulta
- Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations2020 | 1. lékařská fakulta
- Význam nových laboratorních technik v dia-gnostice Niemann-Pickovy choroby typu C2020 | 1. lékařská fakulta
- Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II2018 | 1. lékařská fakulta
- Specific storage of glycoconjugates with terminal alpha-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B2018 | 1. lékařská fakulta
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